scholarly journals Paternal uniparental disomy for chromosome 14: prenatal management

2019 ◽  
Vol 12 (12) ◽  
pp. e231705
Author(s):  
Joana Isabel Igreja da Silva ◽  
Barbara Ribeiro ◽  
Alexandra Cadilhe ◽  
Cristina Nogueira-Silva
Keyword(s):  
Uniparental Disomy ◽  
First Trimester ◽  
Molecular Study ◽  
Chromosome 14 ◽  
Female Fetus ◽  
Maternal Contribution ◽  
Ultrasound Findings ◽  
Prenatal Management ◽  
Paternal Uniparental Disomy ◽  
First Trimester Ultrasound

We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks’ gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intestinal loops, at her first-trimester ultrasound scan. At 16 weeks’ gestation, an amniocentesis was performed and karyotype analysis revealed a balanced Robertsonian translocation between chromosomes 13 and 14 in a female fetus (45,XX,der(13;14)(q10;q10)). Given this result and ultrasound findings, karyotype and molecular study of the couple were suggested. The results pointed out the absence of maternal contribution to the analysed regions by paternal uniparental disomy for chromosome 14 (isodisomy), which is associated with a severe phenotype. The correlation between ultrasound findings and the genetic study is primordial to guide the diagnostic assessment and to establish the prognosis of the fetal pathology.

scholarly journals Ultrasound Evaluation of Pregnancy in the First Trimester

2010 ◽  
Vol 4 (1) ◽  
pp. 17-28 ◽  
Author(s):  
George M Graham
Keyword(s):  
Early Pregnancy ◽  
First Trimester ◽  
Transvaginal Sonography ◽  
List Type ◽  
Intrauterine Pregnancy ◽  
Ultrasound Evaluation ◽  
Early Pregnancy Failure ◽  
Ultrasound Findings ◽  
Ultrasound Technology ◽  
First Trimester Ultrasound

Abstract Improvements in ultrasound technology, including transvaginal sonography and higher frequency probes, have led to a better understanding of early pregnancy development. These advances and the increasing availability of ultrasound allow women to have an earlier and more accurate assessment of their pregnancy. First trimester sonographic signs have been identified that can be used to reassure women that their pregnancy is progressing normally or counsel them that their pregnancy will fail. In addition, first trimester ultrasound can accurately predict the type of twinning in multiple gestations, allowing for appropriate counseling and management. Objectives Know the first trimester ultrasound findings of a normal intrauterine pregnancy Understand the ultrasound findings that diagnose an early pregnancy failure Know the ultrasound criteria used to diagnose a multifetal gestation

Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype

2004 ◽  
Vol 130A (1) ◽  
pp. 88-91 ◽  
Author(s):  
David A. Stevenson ◽  
Arthur R. Brothman ◽  
Zhong Chen ◽  
Pinar Bayrak-Toydemir ◽  
Nicola Longo
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy

2012 ◽  
Vol 21 (4) ◽  
pp. 208-211 ◽  
Author(s):  
Victoria Harrison ◽  
Jane Hurst ◽  
Anjali Lloyd-Jani ◽  
Tracy Lester ◽  
Margaret Lever ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

Monozygotic Twins Discordant for Trisomy 13

2017 ◽  
Vol 20 (4) ◽  
pp. 340-347 ◽  
Author(s):  
Patrick McFadden ◽  
Sarah Smithson ◽  
Robert Massaro ◽  
Jialing Huang ◽  
Gail T Prado ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Monozygotic Twins ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Ultrasound Finding ◽  
Umbilical Cord Cyst ◽  
First Trimester Ultrasound ◽  
Mosaic Trisomy ◽  
Increased Nuchal Translucency

Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype. The surviving twin will be monitored for potential complication of uniparental disomy 13 and mosaic trisomy 13. This case reinforces the need for early ultrasound and nuchal translucency measurements, especially in twin gestations.

Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome

2015 ◽  
Vol 41 (7) ◽  
pp. 1133-1136 ◽  
Author(s):  
Takafumi Watanabe ◽  
Hayato Go ◽  
Masayo Kagami ◽  
Shun Yasuda ◽  
Yasuhisa Nomura ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Paternal Uniparental Disomy

What are the most common first-trimester ultrasound findings in cases of Turner syndrome?

2016 ◽  
Vol 30 (13) ◽  
pp. 1632-1636 ◽  
Author(s):  
Marcin Wiechec ◽  
Anna Knafel ◽  
Agnieszka Nocun ◽  
Ewa Wiercinska ◽  
Artur Ludwin ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
First Trimester ◽  
Ultrasound Findings ◽  
First Trimester Ultrasound
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